Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients. [PDF]
Int J Mol SciDuro G +7 more
europepmc +1 more source
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase. [PDF]
BMC Bioinformatics, 2018 Cimmaruta C +5 more
europepmc +1 more source
Tolerance to Phosphorus Deficiency Improves Seed Phytic Acid‐to‐Iron Molar Ratios in Common Bean
Plant, Cell &Environment, Volume 49, Issue 7, Page 4152-4165, July 2026.ABSTRACT Although significant advances have been achieved in the biofortification of common beans to overcome deficiencies in Zinc (Zn) and iron (Fe), the mechanisms involved remain poorly understood. We thus explored the relationships between phosphorus nutrition and Zn and Fe accumulation in four bean genotypes (Edar, Nizok, Colorado and Chimbolos ...
Barbara Karpinska, Christine H. Foyer
wiley +1 more source
Two synthetically useful glycosidases, the beta-galactosidase from Bacillus circulans and an alpha-galactosidase from Aspergillus oryzae have been immobilized on Eupergit C.
core
Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study. [PDF]
Medicine (Baltimore), 2018 Oder D +11 more
europepmc +1 more source
Oral History Interview with Alpha Bowser
The National Museum of the Pacific War presents an oral interview with Alpha Bowser. Bowser joined the Marine Corps and completed basic training at the Philadelphia Naval Yard in June 1933.
Bowser, Alpha
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Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease. [PDF]
PLoS One, 2017 Hofmann L +3 more
europepmc +1 more source
Compartment‐Specific Immune Remodeling of Renal Aging With C1q‐Associated Podocyte Activation
The FASEB Journal, Volume 40, Issue 11, 15 June 2026.Aging repatterns the renal immune response in a compartment‐specific manner, distinct from chronic kidney disease (CKD) adaptation. Glomerular aging features C1q‐associated podocyte activation and macrophage engagement, whereas tubulointerstitial aging is marked by B‐cell aggregation and tertiary lymphoid structure expansion.
Ju‐Young Moon +10 more
wiley +1 more source
The FASEB Journal, Volume 40, Issue 11, 15 June 2026.L‐malic acid, a natural TCA cycle intermediate, attenuates the virulence of Staphylococcus aureus through dual metabolic and regulatory mechanisms. It redirects central carbon flux away from the mevalonate pathway and inhibits the key enzyme CrtO, suppressing staphyloxanthin biosynthesis and impairing bacterial resistance to oxidative stress ...
Li Shen +11 more
wiley +1 more source